16712[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 151529	GRCh38/hg38 4q31.3(chr4:151956656-152519401)x1	FBXW7, FBXW7-AS1 +17 more	Copy number loss	See cases	GUncertain significance
Select item 2170337	NM_001349798.2(FBXW7):c.2116A>G (p.Met706Val)	FBXW7 (M588V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702999	NM_001349798.2(FBXW7):c.2066G>A (p.Arg689Gln)	FBXW7 (R689Q +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 2582613	NM_001349798.2(FBXW7):c.2065C>T (p.Arg689Trp)	FBXW7 (R571W +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 1784689	NM_001349798.2(FBXW7):c.2028A>G (p.Arg676=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1784650	NM_001349798.2(FBXW7):c.2026A>C (p.Arg676=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3040868	NM_001349798.2(FBXW7):c.2020C>A (p.Arg674=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder	GLikely benign
Select item 1703001	NM_001349798.2(FBXW7):c.2020C>T (p.Arg674Trp)	FBXW7 (R674W +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language +1 more	GPathogenic
Select item 3384084	NM_001349798.2(FBXW7):c.1989_1990del (p.Ser665fs)	FBXW7 (S547fs +2 more)	Deletion (frameshift variant)	Developmental delay	GLikely pathogenic
Select item 3375672	NM_001349798.2(FBXW7):c.1966T>G (p.Phe656Val)	FBXW7 (F538V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370229	NM_001349798.2(FBXW7):c.1965A>G (p.Glu655=)	FBXW7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3337271	NM_001349798.2(FBXW7):c.1944_1945del (p.Trp649fs)	FBXW7 (W531fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1701898	NM_001349798.2(FBXW7):c.1939A>T (p.Lys647Ter)	FBXW7 (K529* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3255132	NM_001349798.2(FBXW7):c.1919del (p.Ser640fs)	FBXW7 (S522fs +2 more)	Deletion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 1782504	NM_001349798.2(FBXW7):c.1911A>G (p.Val637=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2617941	NM_001349798.2(FBXW7):c.1904A>G (p.Asn635Ser)	FBXW7 (N517S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393716	NM_001349798.2(FBXW7):c.1899C>G (p.Asn633Lys)	FBXW7 (N553K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698991	NM_001349798.2(FBXW7):c.1877C>T (p.Ala626Val)	FBXW7 (A508V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1698348	NM_001349798.2(FBXW7):c.1875T>G (p.Ser625Arg)	FBXW7 (S507R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704950	NM_001349798.2(FBXW7):c.1866G>A (p.Lys622=)	FBXW7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3514168	NM_001349798.2(FBXW7):c.1862A>G (p.Asn621Ser)	FBXW7 (N541S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1263716	NM_001349798.2(FBXW7):c.1855+67C>T	FBXW7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2848962	NM_001349798.2(FBXW7):c.1855+12_1855+15del	FBXW7	Deletion (intron variant)	not provided	GLikely benign
Select item 2584429	NM_001349798.2(FBXW7):c.1855+1G>C	FBXW7	Single nucleotide variant (splice donor variant)	FBXW7-related disorder	GPathogenic
Select item 1803684	NM_001349798.2(FBXW7):c.1843C>T (p.Gln615Ter)	FBXW7 (Q497* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1780935	NM_001349798.2(FBXW7):c.1830A>T (p.Thr610=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2632735	NM_001349798.2(FBXW7):c.1793A>T (p.Asn598Ile)	FBXW7 (N480I +2 more)	Single nucleotide variant (missense variant)	FBXW7-related disorder	GLikely pathogenic
Select item 1780081	NM_001349798.2(FBXW7):c.1785C>T (p.Val595=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3391628	NM_001349798.2(FBXW7):c.1757G>A (p.Gly586Glu)	FBXW7 (G468E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257862	NM_001349798.2(FBXW7):c.1745C>T (p.Ser582Leu)	FBXW7 (S502L +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 1702997	NM_001349798.2(FBXW7):c.1713_1714del (p.Asn572fs)	FBXW7 (N454fs +2 more)	Deletion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 1778170	NM_001349798.2(FBXW7):c.1692T>C (p.Arg564=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3257863	NM_001349798.2(FBXW7):c.1691G>A (p.Arg564His)	FBXW7 (R564H +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 1777425	NM_001349798.2(FBXW7):c.1659T>C (p.His553=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2442534	NM_001349798.2(FBXW7):c.1651G>A (p.Gly551Ser)	FBXW7 (G433S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3045311	NM_001349798.2(FBXW7):c.1644+6A>C	FBXW7	Single nucleotide variant (intron variant)	FBXW7-related disorder	GLikely benign
Select item 3372888	NM_001349798.2(FBXW7):c.1634A>G (p.Tyr545Cys)	FBXW7 (Y427C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373628	NM_001349798.2(FBXW7):c.1573G>A (p.Val525Met)	FBXW7 (V407M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366156	NM_001349798.2(FBXW7):c.1561T>G (p.Phe521Val)	FBXW7 (F403V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369928	NM_001349798.2(FBXW7):c.1558G>A (p.Asp520Asn)	FBXW7 (D402N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713418	NM_001349798.2(FBXW7):c.1540G>A (p.Val514Ile)	FBXW7 (V396I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257864	NM_001349798.2(FBXW7):c.1529A>C (p.Asp510Ala)	FBXW7 (D392A +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 376425	NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)	FBXW7 (R505H +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 69961	NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)	FBXW7 (R505C +2 more)	Single nucleotide variant (missense variant)	FBXW7-related neurodevelopmental disorder	GLikely pathogenic
Select item 1703000	NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly)	FBXW7 (D480G +2 more)	Single nucleotide variant (missense variant)	Pervasive developmental disorder	GLikely pathogenic
Select item 3093874	NM_001349798.2(FBXW7):c.1433C>T (p.Ser478Phe)	FBXW7 (S360F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3046931	NM_001349798.2(FBXW7):c.1419-10C>G	FBXW7	Single nucleotide variant (intron variant)	FBXW7-related disorder	GLikely benign
Select item 376414	NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)	FBXW7 (R465C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1723774	NM_001349798.2(FBXW7):c.1387A>G (p.Thr463Ala)	FBXW7 (T345A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369097	NM_001349798.2(FBXW7):c.1381A>G (p.Thr461Ala)	FBXW7 (T343A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381571	NM_001349798.2(FBXW7):c.1361T>C (p.Ile454Thr)	FBXW7 (I336T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377097	NM_001349798.2(FBXW7):c.1331_1332del (p.Lys444fs)	FBXW7 (K326fs +2 more)	Deletion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 2626983	NM_001349798.2(FBXW7):c.1315A>G (p.Thr439Ala)	FBXW7 (T321A +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 1723491	NM_001349798.2(FBXW7):c.1300A>G (p.Ile434Val)	FBXW7 (I316V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3093873	NM_001349798.2(FBXW7):c.1295A>T (p.Asn432Ile)	FBXW7 (N352I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3572710	NM_001349798.2(FBXW7):c.1282C>A (p.Gln428Lys)	FBXW7 (Q428K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702998	NM_001349798.2(FBXW7):c.1267G>A (p.Gly423Arg)	FBXW7 (G423R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1800495	NM_001349798.2(FBXW7):c.1259A>T (p.His420Leu)	FBXW7 (H302L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1804309	NM_001349798.2(FBXW7):c.1237-5T>G	FBXW7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2710224	NM_001349798.2(FBXW7):c.1236+16del	FBXW7	Deletion (intron variant)	not provided	GLikely benign
Select item 2655130	NM_001349798.2(FBXW7):c.1200C>T (p.Asp400=)	FBXW7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327216	NM_001349798.2(FBXW7):c.1182A>G (p.Ile394Met)	FBXW7 (I276M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684078	NM_001349798.2(FBXW7):c.1177C>T (p.Arg393Ter)	FBXW7 (R275* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1736785	NM_001349798.2(FBXW7):c.1161A>G (p.Leu387=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2631482	NM_001349798.2(FBXW7):c.1154C>G (p.Thr385Arg)	FBXW7 (T267R +2 more)	Single nucleotide variant (missense variant)	FBXW7-related disorder	GUncertain significance
Select item 3058091	NM_001349798.2(FBXW7):c.1128G>T (p.Leu376=)	FBXW7	Single nucleotide variant (synonymous variant)	FBXW7-related disorder	GLikely benign
Select item 2703871	NM_001349798.2(FBXW7):c.1120A>G (p.Lys374Glu)	FBXW7 (K294E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446061	NM_001349798.2(FBXW7):c.1099C>T (p.Arg367Ter)	FBXW7 (R249* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2629379	NM_001349798.2(FBXW7):c.1076A>G (p.His359Arg)	FBXW7 (H241R +2 more)	Single nucleotide variant (missense variant)	FBXW7-related disorder	GUncertain significance
Select item 1783473	NM_001349798.2(FBXW7):c.1071A>G (p.Arg357=)	FBXW7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3061317	NM_001349798.2(FBXW7):c.1044_1045del (p.His348fs)	FBXW7 (H230fs +2 more)	Microsatellite (frameshift variant)	FBXW7-related disorder	GLikely pathogenic
Select item 2501977	NM_001349798.2(FBXW7):c.1045A>G (p.Ser349Gly)	FBXW7 (S231G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095485	NM_001349798.2(FBXW7):c.1031C>G (p.Pro344Arg)	FBXW7 (P264R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503844	NM_001349798.2(FBXW7):c.1002G>T (p.Leu334Phe)	FBXW7 (L216F +2 more)	Single nucleotide variant (missense variant)	FBXW7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1259752	NM_001349798.2(FBXW7):c.986-41T>C	FBXW7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3339432	NM_001349798.2(FBXW7):c.985+18A>G	FBXW7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2708415	NM_001349798.2(FBXW7):c.967G>A (p.Glu323Lys)	FBXW7 (E205K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235824	NM_001349798.2(FBXW7):c.915_918dup (p.Thr307fs)	FBXW7 (T189fs +2 more)	Duplication (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 1291721	NM_001349798.2(FBXW7):c.861+2109A>G	FBXW7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3341451	NM_001349798.2(FBXW7):c.850C>T (p.Leu284Phe)	FBXW7, FBXW7-AS1 (L166F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental delay, hypotonia, and impaired language	GUncertain significance
Select item 2580756	NM_001349798.2(FBXW7):c.835G>T (p.Asp279Tyr)	FBXW7, FBXW7-AS1 (D161Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1701892	NM_001349798.2(FBXW7):c.832C>T (p.Arg278Ter)	FBXW7, FBXW7-AS1 (R160* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3367628	NM_001349798.2(FBXW7):c.803T>C (p.Met268Thr)	FBXW7, FBXW7-AS1 (M150T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2681279	NM_001349798.2(FBXW7):c.803T>A (p.Met268Lys)	FBXW7, FBXW7-AS1 (M150K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GPathogenic
Select item 3372572	NM_001349798.2(FBXW7):c.799C>T (p.His267Tyr)	FBXW7, FBXW7-AS1 (H149Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1760740	NM_001349798.2(FBXW7):c.780T>C (p.Cys260=)	FBXW7, FBXW7-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3370817	NM_001349798.2(FBXW7):c.760G>A (p.Asp254Asn)	FBXW7, FBXW7-AS1 (D136N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1294717	NM_001349798.2(FBXW7):c.726+114T>C	FBXW7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712005	NM_001349798.2(FBXW7):c.726+19G>C	FBXW7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702155	NM_001349798.2(FBXW7):c.726+2_726+5dup	FBXW7	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2540780	NM_001349798.2(FBXW7):c.673A>G (p.Ile225Val)	FBXW7 (I225V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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